Fragile X Syndrome

Fragile X Syndrome

What is Fragile X Syndrome?

Fragile X syndrome is a genetic condition affecting around 1 in 3600 boys and 1 in 4000 girls worldwide.

What causes Fragile X syndrome?

Fragile X syndrome is a caused by a mutation of the DNA. This mutation leads to a repetition of the bases CGG present on the Fragile X Mental Retardation 1 (FMR1) of the X chromosome. Abnormal multiplication of CGG bases causes a failure to manufacture the Fragile X Mental Retardation Protein (FMRP). The absence of FMRP leaves the nervous system and brain of the baby in an underdeveloped state.

What are the signs and symptoms of Fragile X syndrome?

Fragile X syndrome leads to a variety of symptoms including:

Physical Changes

  • Long face
  • Extra large ears
  • Super flexible finger joints
  • Extremely weak muscles and loss of tone
  • Flat feet (no arch under feet)

Mental Changes

  • Variable range of IQ ( from normal to severe disability)
  • Features of autism, including difficulty having proper conversations.
  • Social anxiety (poor eye contact and avoiding human interaction)
  • Memory impairment

How is Fragile X syndrome diagnosed?

There are two ways to diagnose Fragile X syndrome:

  • The signs and symptoms of this condition such as extra large ears.
  • Looking the genetic makeup of the individual to figure out the number of repetitions of CGG on the X chromosome.

How is Fragile X syndrome managed?

Unfortunately there is no cure for the genetic mutation leading to Fragile X syndrome. However, the symptoms of this condition can be managed.

Management methods include:

  • Medications, mood stabilisers and antidepressants are administered to reduce the anxiety and impulsiveness.
  • Behavioural therapy is necessary to boost to the confidence of the individual and makes peer interaction easier.
  • Speech Therapy is also recommended as children with Fragile X syndrome may have difficulties expressing themselves.
  • Surgical treatment may be considered as an option for physical abnormalities.

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